Variant report

Variant	rs12418498
Chromosome Location	chr11:46010847-46010848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45967819..45970756-chr11:46009123..46011676,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10769187	1.00[YRI][hapmap]
rs11600515	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2959100	1.00[YRI][hapmap]
rs2959101	1.00[YRI][hapmap]
rs4505038	1.00[YRI][hapmap]
rs7112677	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523952	chr11:45983385-46028281	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12418498	MADD	cis	parietal	SCAN
rs12418498	ARFGAP2	cis	cerebellum	SCAN
rs12418498	PTPMT1	cis	cerebellum	SCAN
rs12418498	PEX16	cis	parietal	SCAN
rs12418498	MADD	cis	cerebellum	SCAN
rs12418498	C1QTNF4	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45993000-46015000	Weak transcription	Psoas Muscle	Psoas
2	chr11:45993000-46017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:46000400-46013000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:46000800-46012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:46001000-46015400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:46001400-46013200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:46001400-46013600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:46001400-46015200	Weak transcription	Pancreas	Pancrea
9	chr11:46001400-46016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:46001600-46015200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:46001600-46015400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:46001600-46016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:46001600-46021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:46002000-46015000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:46002600-46012000	Weak transcription	GM12878-XiMat	blood
22	chr11:46002600-46023200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:46004600-46012400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:46004800-46011200	Weak transcription	HUVEC	blood vessel
25	chr11:46004800-46015000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:46005000-46012000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46005000-46012000	Weak transcription	Ovary	ovary
28	chr11:46005000-46014400	Weak transcription	Fetal Stomach	stomach
29	chr11:46005200-46012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:46005200-46014800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:46005200-46014800	Weak transcription	NHLF	lung
32	chr11:46005200-46015000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:46005400-46014400	Weak transcription	Aorta	Aorta
34	chr11:46005400-46014400	Weak transcription	Fetal Lung	lung
35	chr11:46005400-46014800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:46005400-46014800	Weak transcription	NH-A	brain
37	chr11:46005400-46015200	Weak transcription	Left Ventricle	heart
38	chr11:46005400-46015200	Weak transcription	Right Ventricle	heart
39	chr11:46005600-46012400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:46005600-46014600	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:46006000-46015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:46006200-46012000	Weak transcription	Fetal Heart	heart
43	chr11:46006200-46014800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:46006200-46015400	Weak transcription	Primary T cells from cord blood	blood
45	chr11:46006200-46025200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:46006800-46014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:46006800-46014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:46006800-46014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:46006800-46021400	Weak transcription	Primary B cells from cord blood	blood
50	chr11:46007000-46012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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